Kornimate/medical-research-clean huggingface dataset:
neuroseq: a prospective trial to evaluate the diagnostic yield of whole genome sequencing (wgs) in adult neurology

Conditions: Neurologic Deficits; Neurologic Disorder; Neurologic Abnormalities

Summary: prospective, multi-site, single-arm study to evaluate the diagnostic yield of cwgs in adults with neurological disorders. a single cohort naive of genetic testing will receive standard of care testing for 180 days followed by cwgs. the cohort will be followed for a total of 365 days following enrollment.

this is a prospective, randomized study to evaluate the diagnostic yield of soc compared to cwgs in each participant. throughout this study, each participant will receive soc testing as determined by the site clinical team. after the physician orders soc testing during standard clinical practice, the subject will be introduced and invited to participate in the study. on day 180, the participant will receive a cwgs result and the participant will continue to be followed for an additional 180 days. a blood sample from each enrolled participant will be collected and shipped to the illumina clinical services laboratory ("icsl"), which is clinical laboratory improvement amendments (clia)-certified and college of american pathologists (cap)-accredited. icsl will conduct cwgs testing with the trugenome undiagnosed disease test ("trugenome test"). the trugenome test cwgs results will be provided to the principal investigator (pi) or designee who will evaluate each participant's test outcome based on aggregate medical information.

Eligibility criteria:
inclusion criteria: 1. age ≥ 18 years at the time of consent 2. participant is referred to a neurogenetics program due to suspected genetic etiology of a neurological syndrome 3. no history of prior genetic testing for the suspected condition in the participant or any family member with a similar phenotype 4. must be able to have one - 4 to 6 ml tube of whole blood drawn for testing 5. able to provide written consent. if participant unable to do so, a legally authorized representative (lar) must do so on behalf of the participant exclusion criteria: 1. any known non-genetic cause(s) of disease, disorder, or phenotypic defect 2. eligibility for enrollment of each participant is at the discretion of the site pi 3. patient is unable or unwilling to undergo any form(s) of soc genetic testing 4. soc testing is not requested for the participant
motor imagery training for upper limb functional strength in chronic stroke patients

Conditions: Chronic Stroke

Summary: stroke is a leading cause of upper extremity deficits worldwide. persistent upper extremity dysfunction affects many post stroke patients and is strongly associated with decreased activities of daily living and poor quality of life. there is accumulating evidence of a cross-over effect with training of one limb that slightly increase strength and coordination in contralateral untrained limb through neurological adaptations. one of rehabilitation that is beneficial for stroke patient is motor imagery, a mental rehearsal of a movement that does not include physical movement has been shown to enhance upper limb function. evidence demonstrate that mi not only activates motor cortical and subcortical regions but also induces plastic change in motor networks and modulates synaptic activity at spinal level.

objective: the objectives of this study are: 1. to improve upper limb functional strength. 2. to improve the upper limb coordination. 3. to improve upper limb functional improvement. hypothesis alternate hypothesis: there will be statistically significant difference in effects of motor imagery technique combined with conventional physical therapy and in comparison to conventional physical therapy alone on upper limb functional strength, coordination and functional improvement in chronic stroke. (p\<0.05). null hypothesis: there will be no statistically significant difference in effects of motor imagery technique combined with conventional physical therapy and in comparison to conventional physical therapy alone on upper limb functional strength, coordination and functional improvement in chronic stroke. (p\>0.05). research design: experimental study. randomized control trial

Eligibility criteria:
inclusion criteria: * stroke duration 6 months onwards (chronic stroke). * age 45 years and above. * both genders. * access cognitive function score \> 24 on moca. exclusion criteria: * patients with any comorbidity, previous surgery and congenital anomly. * patient with any fracture/ msk disorders. * score 3 or more on modified ashworth scale. * patients with hearing impairments

Keywords: motor imagery stroke neurorehabilitation functional strength
safety and effectiveness assessment of the makair artificial ventilator

Conditions: Acute Respiratory Distress Syndrome

Summary: the objective of our study is to carry out an evaluation of the safety and the effectiveness of the use of the makair respirator as useful supplement in situation of shortage of technical devices of assistance to the mechanical invasive ventilation, related to covid-19 through a protocol in 3 successive sequences.


Eligibility criteria:
inclusion criteria: sequence 1 : * patient for whom a certificate has been signed by a support person / family member / close relative independent of the sponsor. * adult * non-hypoxemic patient (pao2 / fio2\> 300) * patient requiring invasive mechanical ventilation\> 24 hours * stabilized patient, i.e. not needing an increase in oxygenation for at least 6 hours sequence 2 : * patient for whom a certificate of consent has been signed by a support person / family member / close relative independent of the sponsor. * adult * patient with mild to moderate acute respiratory distress syndrome (300\> pa02 / fio2\> 100) * patient requiring invasive mechanical ventilation\> 3 days * stabilized patient, i.e. having not required an increase in oxygenation for at least 6 hours sequence3 : * patient for whom a certificate of consent has been signed by a support person / family member / close relative independent of the sponsor or waiver due to life-threatening emergency. * adult * patient with mild to moderate acute respiratory distress syndrome (pao2 / fio2\> 100) or without acute respiratory distress syndrome * patient requiring invasive mechanical ventilation for any duration * situation of shortage among centers investigating technical devices for invasive ventilation to treat all patients exclusion criteria: sequence 1 and sequence 2: * patient positive or showing signs of covid-19 infection * tracheotomized patient * history of pulmonary emphysema or severe to moderate chronic obstructive pulmonary disease * patient in recovery and withdrawal phase of ventilatory assistance * pneumothorax or pneumomediastinum * hemodynamic instability * intracranial hypertension * pregnant woman (a urine or blood pregnancy test must be performed for women of childbearing age) * major protected (guardianship, curatorship and under the protection of justice) * lack of affiliation to the french social security system * participation in another interventional clinical trial sequence3 : * tracheotomized patient * history of pulmonary emphysema or severe to moderate moderate chronic obstructive pulmonary disease * patient in recovery and withdrawal phase of ventilatory assistance * pneumothorax or pneumomediastinum * hemodynamic instability * intracranial hypertension * pregnant woman (a urine or blood pregnancy test must be performed for women of childbearing age) * major protected (guardianship, curatorship and under the protection of justice) * lack of affiliation to the french social security system * participation in another interventional clinical trial on mechanical ventilation
patient and partner intervention after an implantable cardioverter defibrillator (icd)

Conditions: Implantable Cardioverter Defibrillator (ICD)

Summary: the goal of this study is to compare a patient only to a patient+partner intervention on recovery outcomes of patients and partners after implantable cardioverter defibrillator (icd) implantation.

the goal of this randomized trial is to test a patient+partner intervention against the patient only intervention on recovery outcomes of patients and partners after icd implantation. by interventing with both icd patients and their partners, we expect to further improve outcomes of patients and aid in recovery of partners. over a five year period we will test the effects of a 12 week patient+partner intervention against a patient only intervention in the first year subsequent to icd implantation, using a 2 group (n=150/group) randomized clinical trial design. relevant data will be collected on icd patients and intimate partners at hospital discharge, 1, 3, 6, 12 months post-icd implantation. the four major outcomes are: physical functioning, psychological adjustment, health care utilization, and relationship impact. the primary analysis of treatment effect is the change in outcome variables from baseline to 3 months for the patient and partner. secondarily, exploring long term effects of the intervention, theoretical elements, and the intervention effects by icd implant reason will be determined.

Eligibility criteria:
inclusion criteria: * first icd implantation due to either primary or secondary prevention of sca * intimate partner (spouse, lover, or life partner) living at the same residence and willing to participate * able to read, speak, and write english * access to telephone for 1 year after icd implantation exclusion criteria: * clinical co-morbidities that severely impair cognitive and physical functioning at telephone screening * short blessed score \> 6 * age less than 21 years * audit-c score \> 4 for alcohol use * assist 2.0 score \> 4 for daily non-medical use of opiates or hallucinogens,

Keywords: icd hf cardiac arrest vf cardiac arrhythmias
acute kidney injury in non-critical care setting: elaboration and validation of an in-hospital death prognosis score

Conditions: Intra-hospital Mortality; Epidemiological Study

Summary: acute renal failure (aki) is defined by a deterioration of kidney function over a short period. this definition was clarified recently in order to allow homogenization and optimal comparison of patients in clinical studies by the classifications rifle in 2004, akin in 2007 and kdigo in 2013. these classifications decline several stages of ari through the increase in the plasma creatinine level and the decrease in urine flow. even though aki is a frequent pathology in all hospitalized patients, there are only few studies that are interested in this entity in conventional hospital services except intensive care or intensive care. indeed, the recent meta-analysis including the 154 studies focusing on the ari defined by the kdigo criteria, only 7 have recruited patients in conventional nephrology services. however, patients admitted for an ari which requires treatment in a medical service probably have epidemiological characteristics and a different prognosis than those requiring treatment in intensive care. in addition, the parameters of the rifle, akin or kdigo scores are more difficult to establish in conventional hospital services than in intensive care, especially for hourly monitoring of urine flow, not allowing an optimal classification of the episode of ira. this study set out to develop a prognostic score for intra-hospital mortality in ari based on a first historical cohort. the investigators then validated this score on a second prospective cohort obtained over an independent inclusion period and at a distance from the first.


Eligibility criteria:
inclusion criteria: * all patients over 18 years of age admitted for ari, defined by an increase in serum creatinine of more than 50% of baseline serum creatinine in patients without chronic kidney disease or an increase in serum creatinine greater than 100 umol / l compared to baseline serum creatinine if the patient had a serum creatinine clearance less than 60 ml / min / 1.73m2 calculated by the mdrd formula (modification of the diet in renal disease), hospitalized in the nephrology department of the besançon university hospital center exclusion criteria: * kidney transplant and patients from an intensive care unit
a randomized, double-masked, multicenter, controlled study of intravitreal kh902 in patients with neovascular amd

Conditions: Neovascular Age-related Macular Degeneration

Summary: this study is designed to access the safety and efficacy of multiple injections of kh902 at variable dosing regimens in patients with cnv due to neovascular amd.

amd is the leading cause of severe vision loss in people over the age of 65 in the united states and other western countries. a quantity of documents indicate that neovascularization promoted by vegf is main cause of visual acuity decline. patients are starving for a new drug which can notably improve va with less administration frequency and lower treatment cost. the new drug recombinant human vegf receptor-fc fusion protein (kh902) is a gene fusion protein. the pre-clinical researches and phase i study show that kh902 is effective and safe in inhibiting the growth, migration, pullulation of vascular endothelial cells and neovascularization induced by vegf. this study is designed to confirm the efficacy and safety of multiple injections of kh902 at variable dosing regimen in patients with cnv due to neovascular amd. based on the characteristics of kh902 and results from kh902 phase i study as well as reference to clinical trials of similar drugs, it is determined that kh902 is administrated at 0.5mg/eye/time and 2.0mg/eye/time.

Eligibility criteria:
inclusion criteria: * signed the icf; age ≥ 50 years of either gender; * active primary or recurrent lesions with subfoveal or juxtafoveal cnv secondary to neovascular amd in the study eye; * lesion size ≤ 12 disc areas in either eye; * bcva of the study eyes between 73 and 24 letters, inclusively, and the bcva of fellow eyes ≥ 19 letters; * clear ocular media and adequate pupil dilation. * if both eyes were eligible, only one was selected. exclusion criteria: * history of vitreous hemorrhage, retinal detachment or macular hole, presence of retinal pigment epithelial tear, retinal macular traction or macular epiretinal membrane in the study eye; * subfoveal scar or atrophy in the study eye; * subretinal hemorrhage in the study eye; * uncontrolled glaucoma in either eye; * active inflammation or infection in either eye; * previous drug treatment, either anti-vegf drugs or steroid derivatives, and/or, previous ophthalmologic operation or laser therapy in the study eye; * history of surgery within one month preceding enrollment; * any uncontrolled clinical disorders; * patients of child-bearing potential do not adopted adequate contraception methods; * pregnant or nursing women; * patients need to exclude in the opinion of investigator.

Keywords: kh902 age-related macular degeneration (amd) choroidal neovascularization (cnv) intravitreal injection best corrected visual acuity (bcva) central retinal thickness
evaluation of antihypertensive drugs in osa patients

Conditions: Hypertension; Obstructive Sleep Apnea

Summary: this prospective cohort study aimed to assess the phenotypic characteristics of osa patients and their pattern of antihypertensive drugs consumption. the investigators also aimed to investigate a hypothetical association between ongoing anti-hypertensive regimen and blood pressure control rates in these patients. additionally, the investigators were also interested in trying to understand if the control of osa may be influenced by the use of different classes of anti-hypertensive drugs.


Eligibility criteria:
inclusion criteria: * aged above 18 years, that attended a first visit at chln hospital sleep unit were enrolled exclusion criteria: * severe psychiatric disease or inability to understand the information required for an informed consent.

Keywords: obstructive sleep apnea hypertension antihypertensive drugs
study with idebenone in patients with chronic vision loss due to leber's hereditary optic neuropathy (lhon)

Conditions: Leber's Hereditary Optic Neuropathy

Summary: the objective of the study is to determine whether administration of idebenone can shorten the time to improvement of visual acuity in patients with chronic vision loss due to lhon.


Eligibility criteria:
inclusion criteria: * age \> or equal 10 years and \< 65 years * impaired visual acuity in affected eyes due to lhon: visual acuity in best eye \>0.4 logmar * no explanation for visual loss besides lhon exclusion criteria: * any previous use of idebenone * participation in another clinical trial of any investigational drug within 3 months prior to baseline * previous participation in study snt-ii-003 (rhodos) for idebenone.
sleep apnea after extubation

Conditions: Sleep Apnea

Summary: sleep apnea is common after extubation, approximately 71%, and is independently associated with hypertension and metabolic disease contributing to increased morbidity and mortality. respiratory polygraphy is a simpler alternative to in-laboratory polysomnography for the management of more symptomatic patients with obstructive sleep apnea. the aim of this study is to evaluate the prevalence of sleep apnea after extubation by respiratory polygraphy.


Eligibility criteria:
inclusion criteria: * patients after extubation exclusion criteria: * pregnant * non-consciousness * received continuous positive airway pressure (cpap)

Keywords: sleep apnea respiratory polygraphy extubation
the change in vaginal axis on mri after uterus preserving laparoscopic lateral mesh suspension

Conditions: Prolapse Genital; Anatomical Pathological Condition

Summary: laparoscopic lateral mesh suspension is emerged as a practical, safe and feasible alternative to sacropexy to treat female genital apical prolapse. investigators hypothesized that uterus-preserving lateral suspension provides a better anatomical positioning.

suspending the cervix to the bilateral abdominal wall through subperitoneal tunnels may properly mimic cardinal ligament and restore the normal vaginal axis. to prove the null hypothesis, it is planned to compare the vaginal axis on magnetic resonans imaging taken preoperatively and postoperatively in patients who are scheduled for lateral mesh suspension for apical prolapse.

Eligibility criteria:
inclusion criteria: * female genital prolapse exclusion criteria: * patients who had pouch of douglas obliteration * patients with enterocele * patients who have any congenital or acquired anatomic and reproductive anomaly

Keywords: laparoscopic lateral mesh suspension lateral abdominocervicopexy apical prolapse anterior prolapse vaginal axis magnetic resonance imaging
brain as a therapeutic and research target in trigeminal neuropathic pain

Conditions: Trigeminal Neuropathic Pain

Summary: the main goal of this study to integrate techniques producing images of the brain (also called neuroimaging techniques) with non-invasive brain stimulation to investigate factors that may be associated with chronic pain in patients with trigeminal neuropathic pain (tnp).

trigeminal neuropathic pain (tnp) disorders, such as classical trigeminal and post-surgical neuralgia, are debilitating chronic conditions with pain that is either spontaneous or that can be intensely evoked by light touch to the facial skin. although neuroimaging techniques have provided insights into some brain mechanisms of experimental trigeminal pain in humans (dasilva et al., 2002; borsook et al., 2003), it is not well understood how structural and molecular mechanisms are affected during the course of tnp, and how they can be safely modulated for therapeutic and research purposes. understanding these processes is crucial to determine the structures engaged in the development and persistence of tnp. we will test the hypothesis that chronicity of tnp is sustained by changes at cellular and molecular levels in neural circuits associated with pain perception and modulation, rather than by the initial peripheral etiology, and that this dysfunction can be safely targeted and modulated as a therapeutic approach by transcranial direct current stimulation (tdcs). to achieve this goal we will use a neuroimaging technique, pet, employing a mathematical model that permits the quantification of opioid receptor availability in vivo.

Eligibility criteria:
patient inclusion criteria: * daily chronic tnp for at least 6 months not adequately controlled by pervious medicine therapies; * minimal average baseline pain score of 4 (moderate to severe) in the visual analogue scale (vas); * unilateral pain * orofacial allodynic region to mechanical (light touch or palpation) or thermal stimulation (head or cold); patient exclusion criteria: * pregnancy or planning to become pregnant * local pathology (e.g. orofacial lesion) * history of systemic disorders (e.g. ms) * history of other chronic pain disorder (e.g. back pain) * recent orofacial surgery or trauma (\< 6 months) * history of central origin disorders (e.g. stroke)
evaluate the relevance of the use of peripheral venous blood gases for the care of patients in the s.a.u.v (vital emergency rooms) of the chu de caen

Conditions: Critical Illness

Summary: concordance between the lactate values on peripheral venous and arterial blood gases in all patients receiving an arterial sample on their arrival in the s.a.u.v.


Eligibility criteria:
inclusion criteria: * one of this condition in emergency unit : 1. acute respiratory distress 2. a suspicion of an acid-base disorder 3. a state of shock 4. pathologies requiring monitoring of the respiratory system 5. patient under niv 6. poisoning 7. coma with a glasgow score \< or equal to 8 exclusion criteria: * patient presenting another pathology supported in sauv not requiring the realization of arterial blood gases * patient aged \< 18 years * pregnant or breastfeeding woman